Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients

Figure 2

(a) Pedigree of ADCC family B The solid black arrow indicates the proband (III.1). (b) A photograph of the proband's (III.1) lens is shown. (c) Schematic representation of the filter strategies employed in our study. (d) Sanger sequencing results. (e) hydropathic characteristics caused by changes in the variant protein. (f) Multiple protein sequence alignment. (g) The score obtained from PolyPhen-2 analysis was 0.999. (h) The structures of the homomeric WT and variant CRYBB2: c.230G > A; p.G77D proteins were modelled in PyMOL.

(a)

(b)

(c)

(d)

(e)

(f)

(g)

(h)